Financial support: This work was supported by the National Natural Science Foundation of China (30972643,81171627).
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review
Article first published online: 21 NOV 2013
© 2013 The International Society of Dermatology
International Journal of Dermatology
Volume 53, Issue 2, pages 206–209, February 2014
How to Cite
Yang, J., Liang, Y., Zeng, K., Huang, L. and Zheng, M. (2014), Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. International Journal of Dermatology, 53: 206–209. doi: 10.1111/ijd.12193
Conflicts of interest: None.
- Issue published online: 21 JAN 2014
- Article first published online: 21 NOV 2013
- National Natural Science Foundation of China. Grant Numbers: 30972643, 81171627
Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. U2HR gene dysfunction has been identified as the pathogenic change of this disease. Herein we present a four-generation Chinese family of 15 patients carrying MUHH, and detected a recurrent missense mutation in U2HR gene, c.74C>T (p.P25L), previously reported in a Jewish Ashkenazi MUHH family. The literature review concluded that there were 16 mutations of the U2HR gene in patients with MUHH of different origins, and indicated two mutation hot spots (amino acids 1–7 and 24–28) but no clear genotype–phenotype correlations.